{
  "abstract": "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal dominant PTEN hamartomatous tumour syndrome characterised by macrocephaly, genital lentiginosis and intestinal polyposis, often with mucocutaneous, skeletal and vascular anomalies. We report a preadolescent boy with macrocephaly, oral papillomatosis, palmar keratoses, penile lentiginosis, pectus excavatum, hepatosplenomegaly, gastrointestinal hamartomatous polyps and intracranial vascular changes. A large high-flow arteriovenous malformation (AVM) of the right superficial femoral artery was surgically excised with skin graft reconstruction, resulting in a viable graft and no complications. The diagnosis was made using Parisi et al’s BRRS criteria and Pilarski’s PTEN syndrome guidelines. AVMs are rare in BRRS, reported in ≤10% of cases, typically high-flow and limb-located. This case underscores the need for multidisciplinary evaluation and surveillance for PTEN-associated malignancies and highlights surgical intervention’s role in preventing complications while expanding BRRS’s recognised vascular phenotype. Early recognition facilitates timely, targeted management.",
  "authors": [
    {
      "affiliations": [
        "Shri Balaji Institute of Medical Science Raipur, Chattisgarh, Chattisgarh, India"
      ],
      "name": "Akhilesh Shukla"
    },
    {
      "affiliations": [
        "Department of Dermatology, All India Institute of Medical Science Bhopal, Bhopal, Madhya Pradesh, India"
      ],
      "name": "Prashansa Jaiswal"
    },
    {
      "affiliations": [
        "Department of Dermatology STD and Leprosy, All India Institute of Medical Science Bhopal, Bhopal, Madhya Pradesh, India"
      ],
      "name": "Febin Ashraf"
    }
  ],
  "title": "Bannayan-Riley-Ruvalcaba syndrome with arteriovenous malformation",
  "uid": "8d354134-91f4-56e8-a2e2-d13c07da843a"
}